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Case 95 - Discussion

Hematopathology Case


Gaucher's Disease

Summary of Gaucher’s Disease:

§ Autosomal recessive, defective β-glucocerebrosidase

§ Most common lysosomal storage disorder

§ Accumulate glucocerebroside in macrophages of spleen, liver and bone marrow

§ Morphology: Sheets and clusters of Gaucher cells, macrophages with broad “wrinkled paper” cytoplasm and eccentric nuclei

§ PAS+, iron+ (diffuse)

Differential Diagnosis:

§ Niemann-Pick disease: granular or vacuolated cytoplasm

§ Infectious diseases: Whipple disease - GI symptoms, large cystic space, granulomas, PAS+

§ Langerhans cell histiocytosis: epithelioid cells, nuclear grooves, necrosis, eosinophils, CD1a+, S100+

§ Hemophagocytic syndrome: erythrophagocytosis

§ Metastatic carcinoma: rarely in kids, cytological atypia, cytokeratin+